Normal function · from ai-gene-review (P49675, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Congenital Adrenal Hyperplasia causative germline
mechanism: STAR-Dependent Mitochondrial Cholesterol Import Failure
subtype: Lipoid CAH
scoped to subtype: Lipoid CAH
Familial Glucocorticoid Deficiency causative germline
mechanism: STAR-Mediated Cholesterol Transport Deficiency
subtype: FGD3
scoped to subtype: FGD3

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.